-
1
-
-
84867124426
-
COL4A1 and COL4A2 mutations and disease: Insights into pathogenic mechanisms and potential therapeutic targets
-
1:CAS:528:DC%2BC38XhsVartr7K 3459649 22914737 10.1093/hmg/dds346
-
Kuo DS, Labelle-Dumais C, Gould DB (2012) COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Hum Mol Genet 21:R97-R110
-
(2012)
Hum Mol Genet
, vol.21
-
-
Kuo, D.S.1
Labelle-Dumais, C.2
Gould, D.B.3
-
2
-
-
78651387761
-
Clinical spectrum of type IV collagen (COL4A1) mutations: A novel genetic multisystem disease
-
1:CAS:528:DC%2BC3cXhs1alu7%2FL 21157337 10.1097/WCO.0b013e32834232c6
-
Vahedi K, Alamowitch S (2011) Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. Curr Opin Neurol 24:63-68
-
(2011)
Curr Opin Neurol
, vol.24
, pp. 63-68
-
-
Vahedi, K.1
Alamowitch, S.2
-
3
-
-
33645498692
-
Role of COL4A1 in small-vessel disease and hemorrhagic stroke
-
1:CAS:528:DC%2BD28XjtFWgsLY%3D 16598045 10.1056/NEJMoa053727
-
Gould DB, Phalan FC, van Mil SE et al (2006) Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 354:1489-1496
-
(2006)
N Engl J Med
, vol.354
, pp. 1489-1496
-
-
Gould, D.B.1
Phalan, F.C.2
Van Mil, S.E.3
-
4
-
-
77955173802
-
COL4A1 mutations as a monogenic cause of cerebral small vessel disease: A systematic review
-
20558831 10.1161/STROKEAHA.110.581918
-
Lanfranconi S, Markus HS (2010) COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. Stroke 41:e513-e518
-
(2010)
Stroke
, vol.41
-
-
Lanfranconi, S.1
Markus, H.S.2
-
5
-
-
34247618247
-
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage
-
17379824 10.1161/STROKEAHA.106.475194
-
Vahedi K, Kubis N, Boukobza M et al (2007) COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. Stroke 38:1461-1464
-
(2007)
Stroke
, vol.38
, pp. 1461-1464
-
-
Vahedi, K.1
Kubis, N.2
Boukobza, M.3
-
6
-
-
77950789958
-
Ophthalmological features associated with COL4A1 mutations
-
20385946 10.1001/archophthalmol.2010.42
-
Coupry I, Sibon I, Mortemousque B, Rouanet F, Mine M, Goizet C (2010) Ophthalmological features associated with COL4A1 mutations. Arch Ophthalmol 128:483-489
-
(2010)
Arch Ophthalmol
, vol.128
, pp. 483-489
-
-
Coupry, I.1
Sibon, I.2
Mortemousque, B.3
Rouanet, F.4
Mine, M.5
Goizet, C.6
-
7
-
-
37549015654
-
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
-
1:CAS:528:DC%2BD1cXisVOnsA%3D%3D 10.1056/NEJMoa071906
-
Plaisier E, Gribouval O, Alamowitch S et al (2007) COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Eng J Med 357:2687-2695
-
(2007)
N Eng J Med
, vol.357
, pp. 2687-2695
-
-
Plaisier, E.1
Gribouval, O.2
Alamowitch, S.3
-
8
-
-
84864130509
-
COL4A2 mutation associated with familial porencephaly and small-vessel disease
-
1:CAS:528:DC%2BC38XhtVOju73E 3400734 22333902 10.1038/ejhg.2012.20
-
Verbeek E, Meuwissen ME, Verheijen FW et al (2012) COL4A2 mutation associated with familial porencephaly and small-vessel disease. Eur J Hum Genet 20:844-851
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 844-851
-
-
Verbeek, E.1
Meuwissen, M.E.2
Verheijen, F.W.3
-
9
-
-
84855852624
-
De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly
-
1:CAS:528:DC%2BC38XovFGguw%3D%3D 3257897 22209246 10.1016/j.ajhg.2011.11. 016
-
Yoneda Y, Haginoya K, Arai H et al (2012) De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly. Am J Hum Genet 90:86-90
-
(2012)
Am J Hum Genet
, vol.90
, pp. 86-90
-
-
Yoneda, Y.1
Haginoya, K.2
Arai, H.3
-
10
-
-
84903545868
-
Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke
-
10.1093/hmg/ddt418 [Epub ahead of print]
-
Murray LS, Lu Y, Taggart A et al (2013) Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke. Hum Mol Genet. doi: 10.1093/hmg/ddt418 [Epub ahead of print]
-
(2013)
Hum Mol Genet
-
-
Murray, L.S.1
Lu, Y.2
Taggart, A.3
-
11
-
-
84855843828
-
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke
-
1:CAS:528:DC%2BC38XovFGnsg%3D%3D 3257894 22209247 10.1016/j.ajhg.2011.11. 022
-
Jeanne M, Labelle-Dumais C, Jorgensen J et al (2012) COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. Am J Hum Genet 90:91-101
-
(2012)
Am J Hum Genet
, vol.90
, pp. 91-101
-
-
Jeanne, M.1
Labelle-Dumais, C.2
Jorgensen, J.3
|